Variant report

Variant	rs4765041
Chromosome Location	chr12:124579861-124579862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10846598	1.00[ASN][1000 genomes]
rs1631624	1.00[ASN][1000 genomes]
rs1686728	1.00[ASN][1000 genomes]
rs1716378	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716385	1.00[ASN][1000 genomes]
rs1716403	1.00[ASN][1000 genomes]
rs1716409	1.00[ASN][1000 genomes]
rs2451323	1.00[ASN][1000 genomes]
rs2451325	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs707333	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7138055	1.00[ASN][1000 genomes]
rs825454	1.00[ASN][1000 genomes]
rs825457	1.00[ASN][1000 genomes]
rs825464	1.00[ASN][1000 genomes]
rs825466	1.00[ASN][1000 genomes]
rs825479	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs825497	1.00[ASN][1000 genomes]
rs861131	1.00[ASN][1000 genomes]
rs866640	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv518962	chr12:124561803-124583446	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3349362	chr12:124575099-124580197	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124568600-124592000	Weak transcription	Right Atrium	heart
2	chr12:124570800-124582200	Weak transcription	Fetal Brain Female	brain
3	chr12:124577600-124583200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:124578200-124582200	Weak transcription	Fetal Kidney	kidney
5	chr12:124578200-124582200	Weak transcription	Fetal Lung	lung
6	chr12:124578200-124582800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:124578400-124581400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:124578600-124580000	Enhancers	Stomach Mucosa	stomach
9	chr12:124579800-124581600	Weak transcription	Fetal Stomach	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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